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Role of nutrition, lifestyle factors, and genes in the pathogenesis of congenital diaphragmatic hernia: human and animal studies

Leonardus Wje Beurskens , Dick Tibboel , Régine Pm Steegers-Theunissen
DOI: http://dx.doi.org/10.1111/j.1753-4887.2009.00247.x 719-730 First published online: 1 December 2009


Congenital diaphragmatic hernia (CDH) is a severe malformation with a largely unknown pathogenesis. Because an unequivocal genetic relation is diagnosed only in a minority of patients, the involvement of multiple genetic and environmental factors is suggested. Although periconceptional environmental exposures, such as maternal malnutrition and unhealthy lifestyle factors, are associated with several birth defects, they have scarcely been investigated in CDH. Nutrition and lifestyle factors can be modified and may, therefore, contribute to the prevention of CDH. This review provides an overview of the human studies in which the influences of nutrition and some related lifestyle factors during embryogenesis of the diaphragm are described. In addition, the findings in humans are further substantiated by animal studies and the nutrient-gene interactions involved are elaborated upon. The information presented here contributes to the elucidation of the pathogenesis of CDH and will assist the development of preventive nutritional strategies in the future.

  • environmental factors
  • etiology
  • genes
  • malformation
  • nutrient gene
  • prevention
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